Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.
Atefeh MirYongjun SongHane LeeHossein KhanahmadErfan KhorramJafar NasiriMohammad Amin TabatabaiefarPublished in: BMC medical genomics (2023)
The current study's findings expand the existing knowledge of variants of the genes implicated in XLID and broaden the spectrum of phenotypes associated with the related conditions. The data have implications for genetic diagnosis and counseling.